Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22 [4]

Journal of Medical Genetics

Volumn 38, Issue 7, 2001, Pages 470-471

  Dollfus, H ^a   Kumaramanickavel, G ^a   Biswas, P ^a   Stoetzel, C ^a   Quillet, R ^a   Denton, M ^a   Maw, M ^a   Perrin Schmitt, F ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CHROMOSOME 3Q; CHROMOSOME 7P; CHROMOSOME ABERRATION; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; EYELID DISEASE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; INDIA; INFERTILITY; LETTER; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034945023     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (21)

1. Blepharophimosis, ptosis, epicanthus inversus and primary amenorrhoea
2. The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
3. Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies
4. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
5. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23
6. Blepharophimosis syndrome is linked to chromosome 3q
7. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
8. Interstitial deletion of the short arm of chromosome 7 without craniosynostosis
9. Mild phenotypic manifestation of a 7p15.3p21.2 deletion
10. Deletions of the short arm of chromosome 7 without craniostenosis
11. Microdeletion of chromosome 7p syndrome with ocular manifestations
12. The human H-twist gene is located at 7p21 and encodes a b-HLH protein which is 96% similar to its murine counterpart
13. Mutations of the TWIST gene in the Saethre-Chotzen syndrome
14. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
15. The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
16. A new twist: Some patients with Saethre-Chotzen syndrome have a microdetetion syndrome
17. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdetetion syndrome of chromosome band 7p21.1
18. Mutations in the human TWIST gene
19. Saethre-Chotzen syndrome
20. Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein EIA
21. The Saethre-Chotzen syndrome